Aralik 2017
Vitamin D reseptör gen polimorfizmi ile primer biliyer siroz iliskisi
Genetic association of vitamin D receptor polymorphisms with primary biliary cirrhosis
- Ana Sayfa
- Sayılar
- Aralik 2017
- Vitamin D reseptör gen polimorfizmi ile primer biliyer siroz iliskisi ...
Yildirim Beyazit Üniversitesi Tip Fakültesi, 2Tibbi Genetik Bilim Dali, 3Gastroenteroloji Bilim Dali, Ankara
Özet
Giris ve Amaç: Primer biliyer siroz, kronik kolestatik otoimmün karaci-ger hastaligidir. Primer biliyer sirozun patogenezinde genetik faktörlerrol oynamaktadir. 1,25-dihidroksivitamin D3 (1,25(OH)2D3), sekosteroid hormondur. 1,25(OH)2D3 etkilerini vitamin D reseptör araciligi ilegösterir. Vitamin D reseptör geninde birkaç polimorfizm bildirilmisdir.Bazi otoimmün hastaliklar vitamin D reseptör gen polimorfizmi ile iliskilibulunmustur. Biz bu çalismada primer biliyer siroz ile vitamin D reseptörgen polimorfizminin iliskisini degerlendirdik. Gereç ve Yöntem: Atatürk Egitim ve Arastirma Hastanesi Gastoenteroloji Klinigi’nde, 2007-2012 yillari arasinda primer biliyer siroz tanisi ile takip edilmekte olanhastalar alindi. Çalismaya 16 primer biliyer siroz ve 28 saglikli gönüllüdahil edildi. Biliyer obstrüksiyon varligi görüntüleme yöntemleri ile ekarte edildi. 16 hastanin 13’ünde karaciger biyopsisi vardi ve primer biliyersiroz ile uyumlu idi. Eslik eden baska karaciger hastaligi yoktu. Vitamin D reseptör genotiplendirilmesi; BsmI, ApaI, TaqI endonükleazlarikullanilarak polimerize zincir reaksiyonu-restriksiyon parçacik uzunlukpolmorfizmi ile yapildi. Bulgular: Hastalarin 14’ü kadin, 2’si erkekti.Hastalarin yas ortalamasi 58,4±6,6 idi. Kontrol grubu yas ve cinsiyet olarak denkti. Vitamin D reseptör gen BsmI, ApaI, TaqI polimorfizmlerininprimer biliyer siroz ve konrol grubunda farkli olmadigi görüldü. Sonuç:Biz bu çalismada, primer biliyer siroz ile vitamin D reseptör gen BsmI,ApaI, TaqI polimorfizmleri arasinda iliski saptamadik.
Abstract
Background and Aims: Primary biliary cirrhosis is a chronic cholestaticautoimmune liver disease. Genetic factors appear to be involved in thepathogenesis of primary biliary cirrhosis. 1,25 dihydroxyvitamin D3, isa secosteroid hormone that mediates its effects through the vitaminD receptor. A few polymorphisms have been defined in the vitaminD receptor gene so far. Autoimmune diseases have been found to beassociated with vitamin D receptor gene polymorphisms. We evaluatedthe relationship between vitamin D receptor gene polymorphisms andprimary biliary cirrhosis. Materials and Methods: Primary biliary cirrhosis patients who were treated in the Atatürk Research and TeachingHospital Gastroenterology Department, from 2007-2012 are included.The study group included 16 primary biliary cirrhosis patients and 28healthy people. Biliary obstruction was excluded using imaging modalities. Of the 16 patients, 13 had liver biopsies consistent with primarybiliary cirrhosis. There were no concomitant liver diseases. Vitamin Dreceptor genotyping was done by the polymerase chain reaction–restriction fragment length polymorphism with BsmI, ApaI, and TaqIendonucleases. Results: Of the 16 patients, 14 were female. The average age was 58.4±6.6 years. Control group patients were age- andgender-matched. No differences in vitamin D receptor gene BsmI, ApaI,and TaqI polymorphisms were found between the primary biliary cirrhosis and control groups. Conclusion: We did not find any relationshipbetween vitamin D receptor gene BsmI, ApaI, and TaqI polymorphismsand primary biliary cirrhosis.
